A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

BACKGROUND: We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation between cerebellar volumetry and clinical situation. We prospectively evaluated PMM2...

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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Serrano, Natalia Lourdes, De Diego, Victor, Cuadras, Daniel, Martinez Monseny, Antonio F., Velázquez-Fragua, Ramón, López, Laura, Felipe, Ana, Gutiérrez-Solana, Luis G., Macaya, Alfons, Pérez-Dueñas, Belén, Serrano, Mercedes
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2017
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5602850/
https://ncbi.nlm.nih.gov/pubmed/28915903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0707-0
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